Can we prevent sudden death in young athletes?

Owl at Agape Hospice in Calgary, Alberta. (Dr. Noorali Bharwani)
Owl at Agape Hospice in Calgary, Alberta. (Dr. Noorali Bharwani)

Some young athletes die suddenly.

If the athlete is over 35-years of age, sudden death is usually caused by coronary artery disease. If the athlete is below 35-years of age, sudden death is most commonly related to congenital or genetic heart conditions.

Exertional heatstroke can cause sudden death. Exertional heatstroke is caused by an increase in core body temperature brought on by intense physical activity in hot weather. It is most likely to occur if you’re not used to high temperatures.

It is estimated about one in 40,000 to one in 80,000 young athletes suddenly die each year. More than half of sudden deaths are due to underlying heart disease. The most common cause is a genetic condition called hypertrophic cardiomyopathy (HCM). This genetic abnormality causes an area of the heart to become two to three times thicker than usual, making it difficult for blood to pump past the thick point. Complications include heart failure, an irregular heartbeat, and sudden cardiac death.

Unfortunately, up to 50 per cent of those who die never knew they had heart disease.

Review of literature indicates countries such as Italy, teenage athletes are routinely screened with an electrocardiogram (EKG) to detect underlying abnormalities. In the United States, EKG screening is not routinely recommended. It is tempting to order routine EKG to screen young athletes, but there is no strong evidence that indicates screening EKGs can reduce sudden cardiac death among young athletes.

The American Heart Association recommends competitive athletes undergo a 12-item standardized history and physical questionnaire that the organization has developed. EKGs can identify pre-existing heart disease in teens who have a family history of early cardiac death. Genetic testing is used for select individuals with HCM and those who have a family history of heart disease.

A review article in the Canadian Medical Association Journal (CMAJ July 15, 2019) titled,  “The prevention and management of sudden cardiac arrest in athletes,” says exercise may increase the rate of sudden cardiac arrest in athletes with pre-existing cardiac conditions; however, this is difficult to predict or prevent, which means that screening athletes for underlying cardiac pathology is complex, challenging and of uncertain benefit.

A recent Canadian position statement recommends a tiered approach to pre-participation screening, advises against the routine use of EKG as a screening tool, and emphasizes the importance of shared decision-making when considering whether to continue or withdraw from competitive sport.

Establishing effective resuscitation protocols and increasing the availability of automated external defibrillators in settings where competitive sport is undertaken are the most effective strategies in helping reduce the incidence of sudden cardiac death among athletes, says the CMAJ article.

Among young athletes, sudden cardiac arrest is usually the first manifestation of underlying cardiac problem, although one retrospective study found 30 per cent of athletes had symptoms suggestive of cardiac disease before cardiac arrest.

The CMAJ article says, “In the absence of predisposing conditions or symptoms of heart disease, exercise, even at high intensity, poses very little risk to an athlete.”

It is important for young individuals to be involved in regular exercise and sport. The benefits are immense. There is reduced risk of death and disease, and substantial social and psychological gains.

There is no evidence that regular screening of young athletes is beneficial. And sudden cardiac arrest in young athletes is a rare event, the best approach, according to CMAJ article, shared decision-making between athlete and physician is the best approach when athletes who are found to have an underlying cardiac abnormality are considering whether to continue or withdraw from competition.

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Autism Spectrum Disorder (ASD) Encompasses Four Challenging Conditions

"Autism is part of my child. It's not everything he is. My child is so much more than a diagnosis" -S.L. COELHO (Autism Treatment Center of America)
"Autism is part of my child. It's not everything he is. My child is so much more than a diagnosis" -S.L. COELHO (Autism Treatment Center of America)

In 2013, the American Psychiatric Association merged four previously distinct diagnoses into one umbrella diagnosis of autism spectrum disorder (ASD). What causes these conditions? We don’t know. There are different combinations of genetic and environmental influences that cause these illnesses.

The four conditions are:

  1. Autistic disorder
  2. Childhood disintegrative disorder
  3. Pervasive developmental disorder-not otherwise specified (PDD-NOS)
  4. Asperger syndrome

These four conditions are characterized by challenges with social skills, repetitive behaviours, speech and nonverbal communication, as well as by unique strengths and differences.

Autism is a lifelong spectrum disorder. Autism is now the fastest growing and most commonly diagnosed neurological disorder in Canada. Autism occurs in all racial, ethnic and socio-economic groups.

Autism has no single known cause. Given the complexity of the disorder, and the fact that symptoms and severity vary, there are probably many causes. Both genetics and environment may play a role.

There is no link between vaccines and autism. And there’s no way to prevent autism.

In Canada, one in 68 children are currently diagnosed with autism spectrum disorder. The prevalence of autism has increased over 100 per cent in the last 10 years.

The unemployment rate for individuals with ASD is over 80 per cent. With the right support, all individuals with autism can thrive. No two people with autism are the same, not even identical twins.

How do you know your child is autistic?

Because autism varies widely in symptoms and severity, making a diagnosis may be difficult. Mental health concerns such as anxiety and depression are common in individuals with autism. There isn’t a specific medical test to determine the disorder.

Autism’s most obvious signs tend to appear between two and three years of age. Sometimes developmental delays associated with autism can be identified and addressed even earlier.

Autism is characterized by what is clinically described as “deficits in social reciprocity.” Social reciprocity may include a range of back-and-forth actions, such as gestures, sounds, play, attention, and conversation.

Around one third of people with autism have difficulty with communication and have intellectual disability. Many of these individuals have stomach and bowel problems, seizures, sleep disturbances, attention deficit, hyperactivity disorder (ADHD), anxiety and phobias.

The symptoms are varied, but one thing is clear: the earlier a child is diagnosed and begins receiving services, the better the outcome for the child.

Management of a child with autism spectrum disorder

There is no cure for autism but intensive, early treatment can make a big difference in the lives of many children.

Each child with autism spectrum disorder is different with a unique pattern of behavior and level of severity – from low functioning to high functioning, normal to high intelligence. As they mature, some children become more engaged with others and show fewer disturbances in behavior.

Unfortunately, some continue to have difficulty with language or social skills, and the teen years can bring worse behavioral and emotional problems. The goal of treatment is to maximize your child’s ability to function. Early intervention during the preschool years is important. It can help your child learn critical social, communication, functional and behavioral skills.

For more information visit Autism Speaks Canada

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Challenges of Raising a Child with Rett Syndrome

The Colosseum or Coliseum, also known as the Flavian Amphitheatre, in the city of Rome, Italy. (Dr. Noorali Bharwani)
The Colosseum or Coliseum, also known as the Flavian Amphitheatre, in the city of Rome, Italy. (Dr. Noorali Bharwani)

Rett syndrome (RTT) is a rare genetic neurological and developmental disorder that affects the way the brain develops. The condition was first reported in 1966 by Dr. Andreas Rett (an Austrian paediatric neurologist) but has only recently become widely recognized as a discrete disease entity.

It is a progressive inability to use muscles for eye, body movements and speech. It is one of the most common causes of mental difficulties in females.

Rett syndrome affects approximately one in 10,000 live female births. There is less than one per cent chance of having a second child with Rett syndrome.

It is rarely seen in males. Males have a different genetic combination from females. Boys who have the genetic mutation that causes Rett syndrome are affected in devastating ways. Most of them die before birth or in early infancy.

Rett syndrome is caused by a change in the DNA (mutation) named MECP2 that is found on the X chromosome.

Presentation of the Disease

Most babies with Rett syndrome seem to develop normally at first, but after about six months of age, they lose skills they previously had – such as the ability to crawl, walk, communicate or use their hands.

Over time, children with Rett syndrome have increasing problems with the use of muscles that control movement, coordination and communication. Rett syndrome can also cause seizures and intellectual disability.

The most pronounced changes generally occur at 12 to 18 months of age, suddenly, or over a period of weeks or months.

Seizures occur in about half of cases. The girls typically survive into adulthood, but are at risk of sudden unexplained death.

Rett syndrome is described in four stages, although symptoms will often overlap between each stage. Signs and symptoms of Rett syndrome can be subtle in the early stages. If you begin to notice physical problems or changes in behavior of your child after apparently normal development then you should consult your doctor.

Genetic Testing

If your pediatrician suspects Rett syndrome after evaluation, he or she may recommend a genetic test (DNA analysis) to confirm the diagnosis.


Although there’s no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication and providing care and support for children and adults with Rett syndrome and their families.

Treating Rett syndrome requires a multi-disciplinary team approach. Children with Rett syndrome need help with most daily tasks, such as eating, walking and using the bathroom. This constant care can be exhausting and stressful for families. Families need intense support as well.

Survival is relatively good and patients are usually over the age of 10 and 70 per cent are 35 years old. This prolonged survival implies providing multi-disciplinary care over the long term. There is a high incidence of unexplained sudden death in adulthood.

For more information and support contact Rett Syndrome Society of Alberta and the Ontario Rett Syndrome Association.

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How Schools Teach our Children to be Fat

A beautiful view of the mountains in Canmore, Alberta. (Dr. Noorali Bharwani)
A beautiful view of the mountains in Canmore, Alberta. (Dr. Noorali Bharwani)

“Our children are getting fatter. They eat more and move less,” says Diane Kelsall, MD, deputy editor, Canadian Medical Association Journal (CMAJ April 7, 2015), in an editorial titled, “How schools teach our children to be fat.”

The editorial goes on to say that nearly 85 per cent of children aged three to four years meet activity levels recommended in Canadian guidelines, but this falls to only four per cent in teens.

Unfortunately, most of our overweight or obese children will not outgrow their weight problem. That means they develop adult diseases like hypertension and diabetes. And our schools hinder the fight against obesity in our youth, says the editorial.

If you look at a typical day for our children when they are at school then you will understand why Dr. Kelsall feels our schools are doing a poor job of preventing obesity. She makes the following points:

  • Our children’s school day starts early, often well before 9 am.
  • They are likely driven or take the bus to school.
  • They are tired when they arrive and sit for most of the day.
  • Physical education classes are usually not required after grade nine.
  • Lunch may be rushed, and food options available in the school may be high in fat or sugar.
  • At lunch or after classes, some students may participate in sports, but most don’t.
  • Students have hours of homework resulting in extended screen time.
  • They go to bed late, and the cycle starts all over again.

No wonder nearly one-third of our school-aged children are overweight or obese. Our schools should be helping our children to be healthy and that should lead to healthy adulthood. How can schools do that? Dr. Kelsall suggests the following:

  • Daily exercise should be mandatory for all school children. It should become part of daily life. Classes should include enough sustained, vigorous exercise to help students meet recommended activity levels, rather than the 20-minute requirement in some jurisdictions.
  • Walking or cycling to school is a good start.
  • Taking public transportation affords more opportunity for exercise than being driven by parents.

Lengthy sitting time has been shown to be a risk factor for early death in adults. The editorial says that a peek into most high school classrooms will show rows of students sitting for classes that are often 75 minutes in length, among the longest in the world. This sends the message that being sedentary is acceptable. Beyond physical education classes, getting students moving during school hours takes creativity.

We should do what Japan does. Make food education a part of the compulsory curriculum. We should encourage our kids to sleep early and get up early. Like adults, tired adolescents are at increased risk of obesity.

“Obesity is a complex disease and prevention requires multilevel intervention,” says Dr. Kelsall. It starts with the individual and family making good choices around exercise and food intake, but broader societal support is necessary. Our battle against smoking is slowly winning and message to people is clear – if you smoke then you kill yourself and hurt others. The message for obesity and overeating is the same – stop hurting yourself and the people you love.

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